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Select item 105764701.

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

Kim E. Nichols, John D. Crispino, Mortimer Poncz, James G. White, Stuart H. Orkin, John M. Maris, Mitchell J. Weiss

Nat Genet. Author manuscript; available in PMC 2023 Oct 14.

Published in final edited form as: Nat Genet. 2000 Mar; 24(3): 266–270. doi: 10.1038/73480

PMCID:: PMC10576470

Abstract Article PDF–1.3M

Select item 103502592.

Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population

Arati Nandan Saptarshi, Rashmi K. Dongerdiye, Tejashree Anil More, Prabhakar S. Kedar

Ital J Pediatr. 2023; 49: 84. Published online 2023 Jul 16. doi: 10.1186/s13052-023-01493-w

PMCID:: PMC10350259

Abstract Article PDF–1.5M

Select item 101997823.

Severe anemia caused by dominant mutations in Krüppel-like factor 1 (KLF1)

Klaudia Kulczynska-Figurny, James J. Bieker, Miroslawa Siatecka

Mutat Res Rev Mutat Res. Author manuscript; available in PMC 2023 May 20.

Published in final edited form as: Mutat Res Rev Mutat Res. 2020 Oct-Dec; 786: 108336. Published online 2020 Oct 9. doi: 10.1016/j.mrrev.2020.108336

PMCID:: PMC10199782

Abstract Article PDF–960K

Select item 100205324.

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency

Anna Zaninoni, Roberta Marra, Elisa Fermo, Dario Consonni, Immacolata Andolfo, Anna Paola Marcello, Barbara Eleni Rosato, Cristina Vercellati, Wilma Barcellini, Achille Iolascon, Paola Bianchi, Roberta Russo

Sci Rep. 2023; 13: 4395. Published online 2023 Mar 16. doi: 10.1038/s41598-023-31571-2

PMCID:: PMC10020532

Abstract Article PDF–1.1M

Select item 90215405.

The Congenital Dyserythropoieitic Anemias: Genetics and Pathophysiology

Richard King, Patrick J. Gallagher, Rami Khoriaty

Curr Opin Hematol. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Curr Opin Hematol. 2022 May 1; 29(3): 126–136. Published online 2021 Dec 24. doi: 10.1097/MOH.0000000000000697

PMCID:: PMC9021540

Abstract Article PDF–355K

Select item 87605246.

A common human missense mutation of vesicle coat protein SEC23B leads to growth restriction and chronic pancreatitis in mice

Wei Wei, Zhigang Liu, Chao Zhang, Rami Khoriaty, Min Zhu, Bin Zhang

J Biol Chem. 2022 Jan; 298(1): 101536. Published online 2021 Dec 24. doi: 10.1016/j.jbc.2021.101536

PMCID:: PMC8760524

Abstract Article PDF–6.9M

Select item 87524237.

CDAN1基因突变导致的胎儿期非免疫性水肿的家系遗传学分析

王燕超, 黎青, 孙筱放, 李少英, 何健淳, 张敏聪, 黄玲玲, 何文智

Nan Fang Yi Ke Da Xue Xue Bao. 2021 Dec 20; 41(12): 1899–1903, 封三. Chinese. doi: 10.12122/j.issn.1673-4254.2021.12.21

PMCID:: PMC8752423

Abstract Article PDF–1.2M

Select item 85612848.

Recapitulation of erythropoiesis in congenital dyserythropoietic anemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

Caroline Scott, Damien J. Downes, Jill M. Brown, Robert A. Beagrie, Aude-Anais Olijnik, Matthew Gosden, Ron Schwessinger, Christopher A. Fisher, Anna Rose, David J.P Ferguson, Errin Johnson, Quentin A. Hill, Steven Okoli, Raffaele Renella, Kate Ryan, Marjorie Brand, Jim Hughes, Noemi B.A. Roy, Douglas R. Higgs, Christian Babbs, Veronica J. Buckle

Haematologica. 2021 Nov 1; 106(11): 2960–2970. Published online 2020 Oct 29. doi: 10.3324/haematol.2020.260158

PMCID:: PMC8561284

Abstract Article PDF–1.1M

Select item 77411839.

Codanin-1 Mutations Engineered in Human Erythroid Cells Demonstrate Role of CDAN1 in Terminal Erythroid Maturation

Zachary C. Murphy, Michael R Getman, Jaquelyn A Myers, Kimberly N Burgos Villar, Emily Leshen, Ryo Kurita, Yukio Nakamura, Laurie A Steiner

Exp Hematol. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Exp Hematol. 2020 Nov; 91: 32–38.e6. Published online 2020 Oct 16. doi: 10.1016/j.exphem.2020.09.201

PMCID:: PMC7741183

Abstract Article PDF–927K

Select item 761326810.

Genetic and Functional Insights into CDA-I Prevalence and Pathogenesis

Aude-Anaïs Olijnik, Noémi Roy, Caroline Scott, Joseph A Marsh, Jill Brown, Karin Lauschke, Katrine Ask, Nigel Roberts, Damien J. Downes, Sanja Brolih, Errin Johnson, Barbara Xella, Melanie Proven, Ria Hipkiss, Kate Ryan, Per Frisk, Johan Mäkk, Evalena Stattin, Nandini Sadasivam, Louisa McIlwaine, Quentin A Hill, Raffaele Renella, Jim R. Hughes, Richard Gibbons, Anja Groth, Peter J. McHugh, Douglas R Higgs, Veronica J Buckle, Christian Babbs

J Med Genet. Author manuscript; available in PMC 2022 Aug 13.

Published in final edited form as: J Med Genet. 2021 Mar 1; 58(3): 185–195. Published online 2020 Jun 9. doi: 10.1136/jmedgenet-2020-106880

PMCID:: PMC7613268

Abstract Article PDF–2.0M

Select item 726141411.

A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I)

Maithili Shroff, Axel Knebel, Rachel Toth, John Rouse

Biochem J. 2020 May 29; 477(10): 1893–1905. Prepublished online 2020 Apr 2. Published online 2020 May 28. doi: 10.1042/BCJ20190944

PMCID:: PMC7261414

Abstract Article PDF–2.3M

Select item 721679412.

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing

Pei‐Chin Lin, Chao‐Neng Cheng, Hsi‐Yuan Huang, Yu‐Hsin Tseng, Ya‐Sian Chang, Chien‐Yu Lin, Jan‐Gowth Chang

Mol Genet Genomic Med. 2020 May; 8(5): e1220. Published online 2020 Mar 11. doi: 10.1002/mgg3.1220

PMCID:: PMC7216794

Abstract Article PDF–1.0M

Select item 709249313.

Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease

Grace Swickley, Yehoshua Bloch, Lidor Malka, Adi Meiri, Sharon Noy-Lotan, Amiel Yanai, Hannah Tamary, Benny Motro

BMC Mol Cell Biol. 2020; 21: 18. Published online 2020 Mar 23. doi: 10.1186/s12860-020-00258-1

PMCID:: PMC7092493

Abstract Article PDF–2.9M

Select item 702064214.

A Krüppel-like factor 1 (KLF1) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity

Klaudia Kulczynska, James J. Bieker, Miroslawa Siatecka

Mol Cell Biol. 2020 Mar; 40(5): e00444-19. Prepublished online 2019 Dec 9. Published online 2020 Feb 12. doi: 10.1128/MCB.00444-19

PMCID:: PMC7020642

Abstract Article PDF–4.2M

Select item 653485915.

Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors

Melissa D. Ilsley, Stephen Huang, Graham W. Magor, Michael J. Landsberg, Kevin R. Gillinder, Andrew C. Perkins

BMC Genomics. 2019; 20: 417. Published online 2019 May 24. doi: 10.1186/s12864-019-5805-z

PMCID:: PMC6534859

Abstract Article PDF–5.4M

Select item 651936516.

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

Noémi B. A. Roy, Christian Babbs

Br J Haematol. 2019 May; 185(3): 436–449. Published online 2019 Mar 5. doi: 10.1111/bjh.15817

PMCID:: PMC6519365

Abstract Article PDF–911K

Select item 594787017.

Fetal presentation of Congenital Dyserythropoietic Anemia Type 1 with novel compound heterozygous CDAN1 mutations

Jessica A. Meznarich, Lauren Draper, Robert D. Christensen, Hassan M. Yaish, Nick D. Luem, Theodore J. Pysher, Grace Jung, Elizabeta Nemeth, Tomas Ganz, Diane M. Ward

Blood Cells Mol Dis. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Blood Cells Mol Dis. 2018 Jul; 71: 63–66. Published online 2018 Mar 20. doi: 10.1016/j.bcmd.2018.03.002

PMCID:: PMC5947870

Abstract Article PDF–863K

Select item 514758518.

Dermatologic Manifestations of Monogenic Autoinflammatory Diseases

Kyawt Win Shwin, Chyi-Chia Richard Lee, Raphaela Goldbach-Mansky

Dermatol Clin. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Dermatol Clin. 2017 Jan; 35(1): 21–38. doi: 10.1016/j.det.2016.07.005

PMCID:: PMC5147585

Abstract Article PDF–1.1M

Select item 381518119.

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis

Timothy J. Satchwell, Stephanie Pellegrin, Paola Bianchi, Bethan R. Hawley, Alexandra Gampel, Kathryn E. Mordue, Annika Budnik, Elisa Fermo, Wilma Barcellini, David J. Stephens, Emile van den Akker, Ashley M. Toye

Haematologica. 2013 Nov; 98(11): 1788–1796. doi: 10.3324/haematol.2013.085522

PMCID:: PMC3815181

Abstract Article PDF–2.1M

Select item 376209420.

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

Christian Babbs, Nigel A. Roberts, Luis Sanchez-Pulido, Simon J. McGowan, Momin R. Ahmed, Jill M. Brown, Mohamed A. Sabry, WGS500 Consortium, David R. Bentley, Gil A. McVean, Peter Donnelly, Opher Gileadi, Chris P. Ponting, Douglas R. Higgs, Veronica J. Buckle

Haematologica. 2013 Sep; 98(9): 1383–1387. doi: 10.3324/haematol.2013.089490

PMCID:: PMC3762094

Abstract Article PDF–343K

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